Canonical Allele Identifier: CA408103900

Gene: ADAM33

Linked Data

• MyVariant Identifiers: chr20:g.3650279T>A (hg19) ; chr20:g.3669632T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3669632T>A , CM000682.2:g.3669632T>A	GRCh38
NC_000020.10:g.3650279T>A , CM000682.1:g.3650279T>A	GRCh37
NC_000020.9:g.3598279T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.2246A>T MANE Select	ENSP00000348912.3:p.Lys749Ile
ENST00000350009.6:c.2168A>T	ENSP00000322550.5:p.Lys723Ile
ENST00000356518.6:c.2246A>T	ENSP00000348912.2:p.Lys749Ile
ENST00000379861.8:c.2246A>T	ENSP00000369190.4:p.Lys749Ile
ENST00000466620.5:n.1807A>T
ENST00000483362.1:n.994A>T
ENST00000617732.1:c.*933A>T	ENSP00000483343.1:n.*933A>T
ENST00000619289.4:c.1886A>T	ENSP00000484600.1:p.Lys629Ile
NM_001282447.1:c.2246A>T	NP_001269376.1:p.Lys749Ile
NM_025220.3:c.2246A>T	NP_079496.1:p.Lys749Ile
NM_153202.2:c.2168A>T	NP_694882.1:p.Lys723Ile
XM_005260843.1:c.2285A>T	XP_005260900.1:p.Lys762Ile
XM_006723639.1:c.2285A>T	XP_006723702.1:p.Lys762Ile
XM_006723640.1:c.2276A>T	XP_006723703.1:p.Lys759Ile
XM_011529366.1:c.2282A>T	XP_011527668.1:p.Lys761Ile
XM_011529367.1:c.2243A>T	XP_011527669.1:p.Lys748Ile
XM_011529368.1:c.2207A>T	XP_011527670.1:p.Lys736Ile
XM_011529373.1:c.1283A>T	XP_011527675.1:p.Lys428Ile
XR_937151.1:n.2384-262A>T
XR_937152.1:n.2384-262A>T
XR_937153.1:n.2270A>T
XR_937154.1:n.2270A>T
XR_937155.1:n.2191A>T
XR_937157.1:n.2193A>T
NM_001282447.2:c.2246A>T	NP_001269376.1:p.Lys749Ile
NM_025220.4:c.2246A>T	NP_079496.1:p.Lys749Ile
NM_153202.3:c.2168A>T	NP_694882.1:p.Lys723Ile
XM_011529373.2:c.1283A>T	XP_011527675.1:p.Lys428Ile
XR_001754405.1:n.2357A>T
XR_002958534.1:n.2466A>T
NM_001282447.3:c.2246A>T	NP_001269376.1:p.Lys749Ile
NM_025220.5:c.2246A>T MANE Select	NP_079496.1:p.Lys749Ile
NM_153202.4:c.2168A>T	NP_694882.1:p.Lys723Ile